Dwarfism
2. the symptoms of dwarfism is that they have a slower growth rate usually shorter than most or all children.
An adult of height ranging from 3 feet to just above 4 feet
A short neck
Slightly flattened cheekbones
A very short trunk
Average size hands and feet
Short arms and legs
Feet twisted or not in shape (clubfoot)
Hip deformities, due to which thigh bones turn inwards (Coxa vara)
Progressive development of lordosis
Progressive hunching curvature of upper spine (kyphoscoliosis)
Vision and hearing problems
3. The disease is usually detected at birth or early infancy. but proportionate dwarfism may not be immediately diagnosed.
4. Frequency of carriers of this disease in the population 1 in 40000 births result in dwarfism.
5. Frequency of disease in the population
1 in 26,000 – 40,000 people
6. Mode of inheritance. Is disease dominant, recessive, sex-linked or due to non-disjunction?
If two homozygous parents, one which has dwarfism, the child will have a 100% chance of obtaining a dwarf gene. If two parents which one is homozygous recessive and the other is heterozygous, the child has a 25% chance of obtaining the disease. Dwarfism is a dominant gene.
7. Is disease autosomal ( on the first 22 pairs of chromosomes), or is it on the X-linked or sex chromosomes?
Dwarfism is autosomal dominant.
8. What chromosome number has been determined to carry this gene?
Since Chromosome 4 contains the necessary gene for dwarfism mutation for FGFR3, dwarfism can be located there.
9. What treatment, if any, is used for this disease? How does the treatment affect the disease?
There is no specific treatment to cure this disease. Dwarfs will learn to overcome problems and get use to their abnormal small structure
10. What is the prognosis or outlook for your baby's recovery?
The prognosis depends on the severity of their condition. Newborns do not survive more than 12 months after birth. however, most people should expect to live a normal lifespan and have a normal intelligence.
11. What future might be used to correct or eliminate your baby's disease?
12. Discuss in detail what difficulties, if any, a parent would encounter in raising a child with this disease.
help their child overcome difficulties such as reaching high objects. they would also have to deal with defending child if he gets bullied for being smaller than normal kids. ect.
2. the symptoms of dwarfism is that they have a slower growth rate usually shorter than most or all children.
3. The disease is usually detected at birth or early infancy. but proportionate dwarfism may not be immediately diagnosed.
4. Frequency of carriers of this disease in the population
1 in 40000 births result in dwarfism.
5. Frequency of disease in the population
1 in 26,000 – 40,000 people
6. Mode of inheritance. Is disease dominant, recessive, sex-linked or due to non-disjunction?
If two homozygous parents, one which has dwarfism, the child will have a 100% chance of obtaining a dwarf gene. If two parents which one is homozygous recessive and the other is heterozygous, the child has a 25% chance of obtaining the disease. Dwarfism is a dominant gene.
7. Is disease autosomal ( on the first 22 pairs of chromosomes), or is it on the X-linked or sex chromosomes?
Dwarfism is autosomal dominant.
8. What chromosome number has been determined to carry this gene?
Since Chromosome 4 contains the necessary gene for dwarfism mutation for FGFR3, dwarfism can be located there.
9. What treatment, if any, is used for this disease? How does the treatment affect the disease?
There is no specific treatment to cure this disease. Dwarfs will learn to overcome problems and get use to their abnormal small structure
10. What is the prognosis or outlook for your baby's recovery?
The prognosis depends on the severity of their condition. Newborns do not survive more than 12 months after birth. however, most people should expect to live a normal lifespan and have a normal intelligence.
11. What future might be used to correct or eliminate your baby's disease?
12. Discuss in detail what difficulties, if any, a parent would encounter in raising a child with this disease.
help their child overcome difficulties such as reaching high objects. they would also have to deal with defending child if he gets bullied for being smaller than normal kids. ect.
.